KLHL12

This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Description

Kelch like family member 12

Tissue specificity

Low tissue specificity

Subcell location

Vesicles, Centriolar satellite

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

1 (202891116 - 202928636)

Ensembl ID

ENSG00000117153  (ver. 103.38)

Orthologs

Mouse Klhl12: ENSMUSG00000026455

UniProt

Q53G59

neXtProt

NX_Q53G59

Human splice variants
Mouse splice variants

Protein structure